To the Editor: Mutations in the GJB2 gene are the most common cause of prelingual deafness, accounting
for approximately half of all nonsyndromic recessive deafness in many world
populations.1 In select groups, such as
Ashkenazi Jews, this proportion is even higher.2
Two deafness-causing GJB2 mutations are particularly
common: the 35delG mutation, with a carrier frequency of 2.5% in the midwestern
United States1; and the 167delT mutation,
with a carrier frequency of 4.76% in the Ashkenazi population.2
The prevalence of these mutations has led to tremendous interest in the clinical
use of mutation screening to identify newborns with GJB2-related deafness.